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Physiotherapy for children with developmental delay
Fulková, Kristína ; Šebek, Milan (advisor) ; Tichá, Monika (referee)
BACHELOR THESIS ABSTRACT Author: Ing. Kristína Fulková Supervisor: Ing. Milan Šebek Title: Physiotherapy for children with developmental delay Abstract: Developmental delay is a clinical term referring to a situation where a child does not reach expected milestones at a given age. This paper discusses the diagnosis, assessment and trends in the treatment of children with developmental delay. A thorough diagnosis is essential to identify specific developmental disorders such as developmental coordination disorder and cerebral palsy. In the Czech Republic, there is no uniform tool for developmental assessment in well-child visits, while abroad there is a tendency to use standardized questionnaires. Monitoring of children's development from the physiotherapist's perspective is possible with standardized instruments, which also provide the possibility of monitoring the effect of therapy. In the Czech Republic, the most used therapeutic concepts such as Vojta therapy, Bobath concept, BPP and ACT offer different methods of supporting motor development, but there is contradictory information in the literature about their effectiveness. Interventions mentioned in the international literature, such as COPCA, GAME and START-Play, emphasize family involvement and stimulation of the child's own movement. These...
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Evaluation of phenotypic expression of proximal 15q chromosomal region amplifications
Duračková, Jana ; Slámová, Zuzana (advisor) ; Trková, Marie (referee)
Proximal region of the long arm of chromosome 15 (region 15q11-q13) is susceptible to occurence of deletions, duplications and inversions in the process of non-allelic homologous recombination due to the presence of five breaking points. Manifestation of these aberrations can differ depending on the parental origin of the derivative chromosome due to the presence of imprinted genes. Deletions of this region cause well-known disorders - Prader-Willi and Angelman syndromes. Phenotypic features linked to amplifications of this region (autism, developmental delay, speech delay, epilepsy, hypotonia) are variable and these amplifications are often inherited from a healthy parent. This thesis concerns itself with evaluation of phenotypic expression of amplifications of chromosomal region 15q11.2q13.3 in terms of genotype-phenotype correlation with the aim to contribute to explanation of these recurrent findings. A cohort of 36 patients with a detected amplification of this region was divided into multiple groups according to various criteria - size and gene content of the amplification, parental origin of the amplification and the presence of a second detected variant. Within these groups, we also took the number of copies and the location of the amplified region (interstitial amplification/marker...
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The neuropsychological development screeing NES:Further testing of the czech version
Jantová, Alžběta ; Šturma, Jaroslav (advisor) ; Šírová, Eva (referee)
Neuropsychological developmental screening (NES) is a German tool (published in 2005) for assessing eight fields of development of children aged 3 to 24 months. It is designed for pediatritians, early intervention specialists and psychologists. This thesis builds on A. Klapetek's thesis and aims to verify and check accurancy of Czech translation of the tool by administring the test to a group of Czech children. A. Klapetek conducted a pilot study of the tool. 50 children (10 for every age group) were administred the translation which was being refined during the field research. She also planned further steps to applying NES. Literature review of the thesis deals with developmental characteristics of infants and toddlers. Psychological assessment of young children and its uses and risks are described. The thesis also persues developmental scales, their history and present state. Theoretical concept of the Neuropsychological developmental screening (NES) is introduced. During the field research a group of 50 children was assessed by Czech translation of the tool, and the same group was tested by Developmental screening (Kovařík). Results of the testing were used to discuss existing norms of the tool, to identify problematic exercises (both too difficult and too easy) and to statistically analyse...
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